Deletion | NC_000004.12:g.(?_88007714)_(88058123_?)del | PKD2 | Pathogenic | 4 | 88928866 | 88979275 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_198334.3(GANAB):c.181C>T (p.Arg61Ter) | GANAB | Pathogenic | 11 | 62406902 | 62406902 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_198334.3(GANAB):c.1848_1849del (p.Asp618fs) | GANAB | Pathogenic | 11 | 62396753 | 62396754 | CCT | C | criteria provided, single submitter | ClinGen:CA10586208,OMIM:104160.0002 |
single nucleotide variant | NM_198334.3(GANAB):c.2443C>T (p.Arg815Ter) | GANAB | Likely pathogenic | 11 | 62394111 | 62394111 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_198334.3(GANAB):c.2449C>T (p.Arg817Trp) | GANAB | Likely pathogenic | 11 | 62394105 | 62394105 | G | A | criteria provided, single submitter | ClinGen:CA10586211,OMIM:104160.0005 |
Deletion | NM_198334.3(GANAB):c.2624+2_2624+7del | GANAB | Pathogenic | 11 | 62393800 | 62393805 | CCCATTA | C | criteria provided, single submitter | ClinGen:CA10586210,OMIM:104160.0004 |
single nucleotide variant | NM_138694.4(PKHD1):c.1A>G (p.Met1Val) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51949731 | 51949731 | T | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_138694.4(PKHD1):c.4_7del (p.Thr2fs) | PKHD1 | Likely pathogenic | 6 | 51949725 | 51949728 | GCAGT | G | criteria provided, single submitter | ClinGen:CA16041075 |
single nucleotide variant | NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51949721 | 51949721 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_138694.4(PKHD1):c.53-2A>G | PKHD1 | Likely pathogenic | 6 | 51948055 | 51948055 | T | C | criteria provided, single submitter | - |